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Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
BACKGROUND: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. Initial case reports suggested that patients may have severe intellectual disability and megaloblastic anemia. Howeve...
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| Published in: | J Inherit Metab Dis |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
2019
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6279618/ https://ncbi.nlm.nih.gov/pubmed/30740726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12035 |
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